Gitelman Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Gitelman Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummaryGitelman syndrome, also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder in which there is a specific defect in kidney function. This defect impairs the kidney's ability to reabsorb salt and causes imbalances in various electrolyte and fluid concentrations in the body. The electrolytes affected are primarily mineral salts such as potassium, calcium, magnesium, sodium, and chloride. The symptoms and severity of the disorder can vary greatly from one person to another and can range from mild to severe. Symptoms and severity can even vary greatly among members of the same family. Common symptoms can include episodes of fatigue, muscle weakness, and muscle cramps sometimes accompanied by gastrointestinal problems such as abdominal pain, nausea and vomiting. Some individuals may need to urinate frequently and will pass a large amount of urine (polyuria). Most cases of Gitelman syndrome are caused by mutations in the SLC12A3 gene and are inherited in an autosomal recessive manner.

IntroductionGitelman syndrome is often discussed along with the Bartter syndromes, a group of several disorders characterized by similar defects in kidney function and causing similar symptoms as is seen in Gitelman syndrome. Sometimes known as a variant of Bartter syndrome, Gitelman syndrome can show significant overlap with Bartter syndrome type 3; in specific cases, it is extremely difficult to distinguish these disorders. Some researchers believe it is better to consider the Bartter syndromes and Gitelman syndrome as a spectrum of disease rather than distinct disorders. These disorders may be broadly classified as renal tubulopathies (because certain small tubes within the kidneys are affected), salt-wasting disorders (because affected individuals excrete excess amounts of salt), salt-losing tubulopathies, and channelopathies (because the ion channels in the kidneys are affected).Most medical sources will use specific terminology to describe the electrolyte imbalances that characterize Gitelman syndrome. These terms refer to findings on laboratory tests rather than specific symptoms. Such terms include low levels of potassium in the blood (hypokalemia), low levels of chloride in the blood (hypochloremia), excess alkaline levels in the body (metabolic alkalosis), low levels of magnesium in the blood (hypomagnesemia), low levels of calcium in the urine (hypocalciuria), high levels of renin in the blood (hyperreninemia), and high levels of aldosterone in the blood (hyperaldosteronemia).

Supporting Organizations

American Kidney Fund, Inc.

11921 Rockville Pike

Suite 300

Rockville, MD 20852

USA

Tel: (800)638-8299

Email: helpline@kidneyfund.org

Website: http://www.kidneyfund.org

Bartter Site

Website: http://barttersite.org/

Bartter Syndrome Foundation

9401 Firestone Drive

Warren, OH 44484

USA

Email: liliya@barttersyndromefoundation.org

Website: http://www.barttersyndromefoundation.org/index.php/en/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Diabetes, Digestive &#038; Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Website: http://www2.niddk.nih.gov/

National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Website: http://www.kidney.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 8/21/2015Copyright 2015 National Organization for Rare Disorders, Inc.

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